PLEKHD1 Gene: Pleckstrin Homology and Coiled-Coil Domain Containing D1
Comprehensive genomic and proteomic annotation of PLEKHD1, including expression, mutations, and disease associations.
Gene Information Card
| Symbol | PLEKHD1 |
|---|---|
| Full Name | Pleckstrin homology and coiled-coil domain containing D1 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q23.3 |
| NCBI Gene ID | 400224 ncbi.nlm.nih.gov/gene/400224 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q6ZP29 |
| OMIM ID | 616727 |
| HGNC ID | 28335 |
| Aliases | FLJ32658, MGC26733 |
Description
PLEKHD1 encodes a protein containing a pleckstrin homology (PH) domain and a coiled-coil region. The PH domain is involved in phosphoinositide binding and membrane targeting, while the coiled-coil domain mediates protein-protein interactions. The exact biological function of PLEKHD1 remains under investigation, but it is implicated in cellular signaling and possibly in cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression; potential role in cell proliferation | COSMIC; NCBI Gene |
| Lung cancer | Somatic mutations observed | COSMIC |
| Colorectal cancer | Somatic mutations observed | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 5.2 | Low |
| Lung | 3.8 | Low |
| Breast | 2.1 | Low |
| Colon | 1.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.4 | Embryonic kidney |
| HeLa | 6.1 | Cervical cancer |
| A549 | 4.3 | Lung cancer |
| MCF7 | 3.2 | Breast cancer |
| HCT116 | 2.7 | Colorectal cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function |
| c.890A>G (p.Gln297Arg) | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylinositol-4 (GO:0005546) | • lipid binding (GO:0008289) |
| • protein binding (GO:0005515) |
Pathways
• Phosphatidylinositol signaling system
Protein Summary
The PLEKHD1 protein (UniProt Q6ZP29) contains a pleckstrin homology domain (residues 1-120) and a coiled-coil region (residues 200-250). It is predicted to localize to the plasma membrane and may participate in phosphoinositide-mediated signaling. The protein is 412 amino acids long with a molecular mass of ~46 kDa.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLEKHD1 Knockout HEK293 Cell Line | EDJ-KQ11565 | Human | 400224 | Details Get a Quote |
| PLEKHD1 Knockout HCT 116 Cell Line | EDJ-KQ39899 | Human | 400224 | Details Get a Quote |
| PLEKHD1 Knockout HeLa Cell Line | EDJ-KQ60260 | Human | 400224 | Details Get a Quote |
| PLEKHD1 Knockout A-549 Cell Line | EDJ-KQ68722 | Human | 400224 | Details Get a Quote |
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